Hs04014916_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49776591 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 160
• Gene Name: adaptor related protein complex 2 alpha 1 subunit
• Gene Aliases: ADTAA, AP2-ALPHA, CLAPA1
• Location: Chr.19:49766923-49807114 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2A1	NM_014203.2			NP_055018.2
	NM_130787.2			NP_570603.2
	AK124343.1
	AK302005.1
	AL136925.1			CAB66859.1
	BC014214.2			AAH14214.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	MIR4749 GRIN2D FAM83E NTF4 PIH1D1 CGB8 PTH2 SNAR-C2 PNKP LIN7B RRAS LOC101059948 CABP5 CCDC114 PTOV1-AS1 SLC17A7 SNAR-A1 SNAR-A5 KCNA7 NOSIP FUT1 PPP1R15A GRWD1 ALDH16A1 SNAR-A8 IRF3 CD37 HSD17B14 MIR5088 MIR150 SIGLEC11 ATF5 NUCB1 SULT2B1 MIR6798 CARD8-AS1 FUT2 RUVBL2 TRPM4 SNAR-C4 PRRG2 RCN3 PLA2G4C-AS1 CARD8 SNAR-G1 ELSPBP1 SEC1P PRMT1 SNORD35A ADM5 SNAR-A6 CYTH2 MIR4751 SIGLEC16 LOC101928295 CGB2 FUZ SNAR-C3 SNRNP70 SNAR-A14 SCAF1 LMTK3 PPFIA3 SNAR-A2 RPL18 SNAR-G2 GYS1 FGF21 GFY BCL2L12 SNAR-B2 CGB3 KCNJ14 NTN5 SNORD33 TMEM143 MED25 AP2A1 RASIP1 CPT1C SNORD32A LHB FCGRT LOC105372430 PLEKHA4 SNORD35B PRR12 EMP3 TEAD2 DHDH C19orf68 SNAR-C5 CGB7 MIR4324 FLT3LG LOC100287477 SNAR-B1 PLA2G4C NUP62 ZNF473 VRK3 SNAR-A10 FTL BCAT2 C19orf73 TULP2 SNAR-A7 ZNF114 BSPH1 MIR6800 SPACA4 RPL13A BAX LIG1 KDELR1 TSKS SYNGR4 SNORD34 DBP RPS11 TBC1D17 MIR4750 CA11 SNAR-A12 IL4I1 CGB5 NUCB1-AS1 MAMSTR PTOV1 DKKL1 SLC6A16 SNAR-A3 SNAR-A9 PTOV1-AS2 SNAR-A4 HRC SPHK2 SNAR-D AKT1S1 IZUMO1 CGB1 SNAR-A11 SNAR-C1 FLJ26850 LOC105447645 CCDC155 SNAR-A13 MIR6799
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	CPT1C SCAF1 MIR4749 MIR6800 IRF3 PTOV1 PRR12 TSKS MIR5088 PTOV1-AS2 PRMT1 RRAS ADM5 BCL2L12 PTOV1-AS1 FUZ MED25 MIR6799 AP2A1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	IL4I1 MIR4749 MIR6800 NUP62 PTOV1 TSKS PTOV1-AS2 PNKP AKT1S1 MIR4751 ATF5 TBC1D17 PTOV1-AS1 FUZ MIR4750 MED25 MIR6799 AP2A1
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	CPT1C MIR4749 MIR6800 PRRG2 PRR12 TSKS PNKP PRMT1 RRAS ADM5 MIR4751 TBC1D17 PTOV1-AS1 FUZ MIR4750 NOSIP IL4I1 SCAF1 NUP62 IRF3 PTOV1 MIR5088 PTOV1-AS2 AKT1S1 ATF5 BCL2L12 MED25 MIR6799 AP2A1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	CPT1C MIR6800 SNORD32A PRRG2 RCN3 FCGRT RPL13A SNORD35B PRR12 TSKS SNORD34 PRMT1 RRAS SNORD35A ADM5 RPS11 PTOV1-AS1 FUZ NOSIP SCAF1 IRF3 MIR5088 MIR150 BCL2L12 SNORD33 MED25 MIR6799 AP2A1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
Golgi to endosome transport
endocytosis
microtubule-based movement
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of epidermal growth factor receptor signaling pathway
ephrin receptor signaling pathway
regulation of defense response to virus by virus
Wnt signaling pathway, planar cell polarity pathway
clathrin-mediated endocytosis
negative regulation of hyaluronan biosynthetic process

Function(s)

protein binding
protein C-terminus binding
protein transporter activity
protein kinase binding
protein complex binding
clathrin adaptor activity